Pubblicazioni

Resources and tools for rare disease variant interpretation

2023 - FRONTIERS IN MOLECULAR BIOSCIENCES

Licata, Luana; Via, Allegra; Turina, Paola; Babbi, Giulia; Benevenuta, Silvia; Carta, Claudio; Casadio, Rita; Cicconardi, Andrea; Facchiano, Angelo; Fariselli, Piero; Giordano, Deborah; Isidori, Federica; Marabotti, Anna; Martelli, Pier Luigi; Pascarella, Stefano; Pinelli, Michele; Pippucci, Tommaso; Russo, Roberta; Savojardo, Castrense; Scafuri, Bernardina; Valeriani, Lucrezia; Capriotti, Emidio

Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort

2022 - GENETICS IN MEDICINE

Saeidian, A. H.; Youssefian, L.; Huang, J.; Touati, A.; Vahidnezhad, H.; Kowal, L.; Caffet, M.; Wurst, T.; Singh, J.; Snook, A. E.; Ryu, E.; Fortina, P.; Terry, S. F.; Schoenecker, J. G.; Uitto, J.; Li, Q.

Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations

2019 - HUMAN MUTATION

Fusco, C; Copetti, M; Mazza, T; Amoruso, L; Mastoianno, S; Nardella, G; Guarnieri, V; Micale, L; D'Agruma, L; Castori, M.